Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000005778 | SCV000934312 | pathogenic | Werner syndrome | 2023-07-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1165*) in the WRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 8602509, 8968742, 20443122). This variant is also known as c.3724C>T. ClinVar contains an entry for this variant (Variation ID: 5445). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000005778 | SCV000025960 | pathogenic | Werner syndrome | 1996-04-12 | no assertion criteria provided | literature only |